Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4490
Gene Symbol: MT1B
MT1B
Trifunctional Protein Deficiency With Myopathy And Neuropathy
0.010 GeneticVariation BEFREE The patient was found to be homozygous for the MTP:G1528 C mutation (LCHAD-deficiency). 10789927

2000